BRCA 1 and 2 mutations 8 SNP

The BRCA 1 and 2 Mutations 8 SNP test is an advanced genetic blood test used to detect specific mutations in the BRCA1 and BRCA2 genes. These genes play a key role in regulating cell growth and repairing DNA damage. Mutations in these genes can increase the risk of hereditary breast and ovarian cancer in women, as well as prostate cancer in men.

Who performs the BRCA 1 and 2 Mutations 8 SNP test?

The IntroLab genetic laboratory has the qualified staff and technology needed to perform this analysis. Using Real Time PCR technology, we specifically test for eight mutations in the BRCA1 and BRCA2 genes.

The analysis covers the following mutations:

BRCA1:

• 185delAG
• 4153delA
• 5382insC
• 3819delGTAAA
• 385delGTCT
• 300T>G (Cys61Gly)
• 2080delA

BRCA2:

• 6174delT

The test detects only the mutations listed above and does not include sequencing of the entire BRCA1 and BRCA2 genes.

Who is the test intended for?

This test is intended for individuals whose personal or family medical history suggests a possible hereditary predisposition to breast, ovarian, or prostate cancer. It is particularly relevant if a family member has been confirmed to carry one of the eight mutations covered by the analysis.

The choice of test should be discussed with a doctor or a genetic counseling service. The analysis is performed using a peripheral blood sample.

What makes the BRCA1 and BRCA2 eight-mutation analysis useful?

Identifying mutations in the BRCA1 and BRCA2 genes allows certain hereditary risks to be assessed and may help guide screening, monitoring, and, in people diagnosed with cancer, treatment planning.

Our laboratory follows quality control protocols when performing the analysis.

Interpreting the results

A positive result means that one of the mutations tested for has been detected. It indicates an increased risk of certain cancers, but it does not mean that the person has cancer or will definitely develop it.

A negative result means that none of the eight mutations tested for has been detected. This finding does not rule out other mutations in the BRCA1 and BRCA2 genes or other hereditary predispositions to cancer.

The result is interpreted alongside the individual’s personal and family medical history as part of genetic counseling. If more extensive testing is needed, NGS sequencing of the BRCA1 and BRCA2 genes is also available as a separate analysis.